Variant report

Variant	rs340333
Chromosome Location	chr2:179915394-179915395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10930851	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11688881	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053571	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12991291	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17885265	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007326	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2592566	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655148	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs340319	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs340323	1.00[ASN][1000 genomes]
rs340325	0.93[ASN][1000 genomes]
rs340331	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340337	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340340	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55720955	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7581299	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179909400-179916000	Weak transcription	Spleen	Spleen
2	chr2:179909600-179916000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:179910800-179915800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:179912400-179915400	Active TSS	Fetal Heart	heart
5	chr2:179912600-179915600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:179912600-179915600	Active TSS	HSMMtube	muscle
7	chr2:179912600-179916200	Enhancers	Fetal Kidney	kidney
8	chr2:179912800-179916000	Active TSS	Fetal Muscle Trunk	muscle
9	chr2:179913400-179916400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:179913400-179916400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:179913600-179917000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:179913800-179916200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:179913800-179916200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:179913800-179916200	Enhancers	Fetal Lung	lung
15	chr2:179914400-179915800	Enhancers	HepG2	liver
16	chr2:179914600-179915400	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:179914600-179915600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:179914600-179916000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:179914600-179916000	Enhancers	Colon Smooth Muscle	Colon
20	chr2:179914600-179916000	Weak transcription	Placenta	Placenta
21	chr2:179914600-179916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:179914600-179916400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr2:179914800-179915400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:179914800-179915600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:179914800-179915800	Weak transcription	Liver	Liver
26	chr2:179914800-179915800	Weak transcription	Pancreas	Pancrea
27	chr2:179914800-179915800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:179914800-179916000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:179914800-179916000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:179914800-179916000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:179914800-179916000	Weak transcription	Left Ventricle	heart
32	chr2:179914800-179916200	Enhancers	Fetal Intestine Small	intestine
33	chr2:179914800-179916200	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:179914800-179917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:179915000-179915400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:179915000-179915400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:179915000-179915400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr2:179915000-179915400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:179915000-179915400	Weak transcription	Aorta	Aorta
40	chr2:179915000-179915600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:179915000-179915600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:179915000-179915600	Active TSS	Fetal Muscle Leg	muscle
43	chr2:179915000-179916000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:179915000-179916200	Enhancers	Adipose Nuclei	Adipose
45	chr2:179915000-179916400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:179915000-179916400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:179915000-179916400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:179915000-179916400	Enhancers	Fetal Intestine Large	intestine
49	chr2:179915000-179916400	Enhancers	HSMM	muscle
50	chr2:179915200-179915400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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